Canonical Allele Identifier: CA2474082183
Gene: POMGNT1 HGNC NCBI
TSPAN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46192498_46192516delinsCCCTGGTCATTCCAGCCTA , CM000663.2:g.46192498_46192516delinsCCCTGGTCATTCCAGCCTA GRCh38
NC_000001.10:g.46658170_46658188delinsCCCTGGTCATTCCAGCCTA , CM000663.1:g.46658170_46658188delinsCCCTGGTCATTCCAGCCTA GRCh37
NC_000001.9:g.46430757_46430775delinsCCCTGGTCATTCCAGCCTA NCBI36
NG_009205.2:g.32790_32808delinsTAGGCTGGAATGACCAGGG
NG_009205.3:g.32790_32808delinsTAGGCTGGAATGACCAGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000396420.8:c.1284+2_1284+20delinsTAGGCTGGAATGACCAGGG (POMGNT1) ENSP00000379698.4:n.1284+2_1284+20delinsTAGGCTGGAATGACCAGGG
ENST00000477114.2:n.1846+2_1846+20delinsTAGGCTGGAATGACCAGGG (POMGNT1)
ENST00000497439.6:n.1456+2_1456+20delinsTAGGCTGGAATGACCAGGG (POMGNT1)
ENST00000684817.1:n.1644+2_1644+20delinsTAGGCTGGAATGACCAGGG (POMGNT1)
ENST00000684898.1:n.1846+2_1846+20delinsTAGGCTGGAATGACCAGGG (POMGNT1)
ENST00000685230.1:c.*594+2_*594+20delinsTAGGCTGGAATGACCAGGG (POMGNT1) ENSP00000510305.1:n.*594+2_*594+20delinsTAGGCTGGAATGACCAGGG
ENST00000685275.1:n.1831+2_1831+20delinsTAGGCTGGAATGACCAGGG (POMGNT1)
ENST00000685444.1:c.1185+2_1185+20delinsTAGGCTGGAATGACCAGGG (POMGNT1) ENSP00000510762.1:n.1185+2_1185+20delinsTAGGCTGGAATGACCAGGG
ENST00000685704.1:n.1846+2_1846+20delinsTAGGCTGGAATGACCAGGG (POMGNT1)
ENST00000685775.1:n.2811+2_2811+20delinsTAGGCTGGAATGACCAGGG (POMGNT1)
ENST00000685833.1:n.2162+2_2162+20delinsTAGGCTGGAATGACCAGGG (POMGNT1)
ENST00000686252.1:n.2358+2_2358+20delinsTAGGCTGGAATGACCAGGG (POMGNT1)
ENST00000686379.1:c.*408+2_*408+20delinsTAGGCTGGAATGACCAGGG (POMGNT1) ENSP00000508913.1:n.*408+2_*408+20delinsTAGGCTGGAATGACCAGGG
ENST00000686724.1:n.1456+2_1456+20delinsTAGGCTGGAATGACCAGGG (POMGNT1)
ENST00000686737.1:c.1284+2_1284+20delinsTAGGCTGGAATGACCAGGG (POMGNT1) ENSP00000508736.1:n.1284+2_1284+20delinsTAGGCTGGAATGACCAGGG
ENST00000687112.1:n.2150+2_2150+20delinsTAGGCTGGAATGACCAGGG (POMGNT1)
ENST00000687149.1:c.1284+2_1284+20delinsTAGGCTGGAATGACCAGGG (POMGNT1) ENSP00000509745.1:n.1284+2_1284+20delinsTAGGCTGGAATGACCAGGG
ENST00000687197.1:c.*224+2_*224+20delinsTAGGCTGGAATGACCAGGG (POMGNT1) ENSP00000510749.1:n.*224+2_*224+20delinsTAGGCTGGAATGACCAGGG
ENST00000687235.1:n.1846+2_1846+20delinsTAGGCTGGAATGACCAGGG (POMGNT1)
ENST00000687613.1:n.2034+2_2034+20delinsTAGGCTGGAATGACCAGGG (POMGNT1)
ENST00000687683.1:c.1284+2_1284+20delinsTAGGCTGGAATGACCAGGG (POMGNT1) ENSP00000508522.1:n.1284+2_1284+20delinsTAGGCTGGAATGACCAGGG
ENST00000688032.1:n.1846+2_1846+20delinsTAGGCTGGAATGACCAGGG (POMGNT1)
ENST00000688596.1:n.1935+2_1935+20delinsTAGGCTGGAATGACCAGGG (POMGNT1)
ENST00000688608.1:c.1185+2_1185+20delinsTAGGCTGGAATGACCAGGG (POMGNT1) ENSP00000508890.1:n.1185+2_1185+20delinsTAGGCTGGAATGACCAGGG
ENST00000688919.1:n.2480+2_2480+20delinsTAGGCTGGAATGACCAGGG (POMGNT1)
ENST00000689031.1:n.1846+2_1846+20delinsTAGGCTGGAATGACCAGGG (POMGNT1)
ENST00000689717.1:n.1456+2_1456+20delinsTAGGCTGGAATGACCAGGG (POMGNT1)
ENST00000689756.1:c.*916+2_*916+20delinsTAGGCTGGAATGACCAGGG (POMGNT1) ENSP00000509023.1:n.*916+2_*916+20delinsTAGGCTGGAATGACCAGGG
ENST00000690377.1:n.1631+2_1631+20delinsTAGGCTGGAATGACCAGGG (POMGNT1)
ENST00000690678.1:c.1284+2_1284+20delinsTAGGCTGGAATGACCAGGG (POMGNT1) ENSP00000508703.1:n.1284+2_1284+20delinsTAGGCTGGAATGACCAGGG
ENST00000691209.1:c.*224+2_*224+20delinsTAGGCTGGAATGACCAGGG (POMGNT1) ENSP00000510112.1:n.*224+2_*224+20delinsTAGGCTGGAATGACCAGGG
ENST00000691243.1:c.1284+2_1284+20delinsTAGGCTGGAATGACCAGGG (POMGNT1) ENSP00000510654.1:n.1284+2_1284+20delinsTAGGCTGGAATGACCAGGG
ENST00000692169.1:n.1433+2_1433+20delinsTAGGCTGGAATGACCAGGG (POMGNT1)
ENST00000692202.1:n.1859+2_1859+20delinsTAGGCTGGAATGACCAGGG (POMGNT1)
ENST00000692322.1:c.*1136+2_*1136+20delinsTAGGCTGGAATGACCAGGG (POMGNT1) ENSP00000509017.1:n.*1136+2_*1136+20delinsTAGGCTGGAATGACCAGGG...
ENST00000692369.1:c.1284+2_1284+20delinsTAGGCTGGAATGACCAGGG (POMGNT1) ENSP00000508453.1:n.1284+2_1284+20delinsTAGGCTGGAATGACCAGGG
ENST00000692599.1:n.1846+2_1846+20delinsTAGGCTGGAATGACCAGGG (POMGNT1)
ENST00000692635.1:c.*224+2_*224+20delinsTAGGCTGGAATGACCAGGG (POMGNT1) ENSP00000508425.1:n.*224+2_*224+20delinsTAGGCTGGAATGACCAGGG
ENST00000693168.1:n.1545+2_1545+20delinsTAGGCTGGAATGACCAGGG (POMGNT1)
ENST00000693218.1:c.1284+2_1284+20delinsTAGGCTGGAATGACCAGGG (POMGNT1) ENSP00000510577.1:n.1284+2_1284+20delinsTAGGCTGGAATGACCAGGG
ENST00000693223.1:n.2232+2_2232+20delinsTAGGCTGGAATGACCAGGG (POMGNT1)
ENST00000693365.1:n.3918+2_3918+20delinsTAGGCTGGAATGACCAGGG (POMGNT1)
ENST00000371984.8:c.1284+2_1284+20delinsTAGGCTGGAATGACCAGGG (POMGNT1) MANE Select ENSP00000361052.3:n.1284+2_1284+20delinsTAGGCTGGAATGACCAGGG
ENST00000371984.7:c.1284+2_1284+20delinsTAGGCTGGAATGACCAGGG (POMGNT1) ENSP00000361052.3:n.1284+2_1284+20delinsTAGGCTGGAATGACCAGGG
ENST00000371992.1:c.1284+2_1284+20delinsTAGGCTGGAATGACCAGGG (POMGNT1) ENSP00000361060.1:n.1284+2_1284+20delinsTAGGCTGGAATGACCAGGG
ENST00000396420.7:c.*953+2_*953+20delinsTAGGCTGGAATGACCAGGG (POMGNT1) ENSP00000379698.3:n.*953+2_*953+20delinsTAGGCTGGAATGACCAGGG
ENST00000485714.1:n.670+2_670+20delinsTAGGCTGGAATGACCAGGG (POMGNT1)
NM_001243766.1:c.1284+2_1284+20delinsTAGGCTGGAATGACCAGGG (POMGNT1) NP_001230695.1:n.1284+2_1284+20delinsTAGGCTGGAATGACCAGGG
NM_001290129.1:c.1218+2_1218+20delinsTAGGCTGGAATGACCAGGG (POMGNT1) NP_001277058.1:n.1218+2_1218+20delinsTAGGCTGGAATGACCAGGG
NM_001290130.1:c.855+2_855+20delinsTAGGCTGGAATGACCAGGG (POMGNT1) NP_001277059.1:n.855+2_855+20delinsTAGGCTGGAATGACCAGGG
NM_017739.3:c.1284+2_1284+20delinsTAGGCTGGAATGACCAGGG (POMGNT1) NP_060209.3:n.1284+2_1284+20delinsTAGGCTGGAATGACCAGGG
XM_005271010.1:c.1284+2_1284+20delinsTAGGCTGGAATGACCAGGG (POMGNT1) XP_005271067.1:n.1284+2_1284+20delinsTAGGCTGGAATGACCAGGG
XM_006710755.1:c.1284+2_1284+20delinsTAGGCTGGAATGACCAGGG (POMGNT1) XP_006710818.1:n.1284+2_1284+20delinsTAGGCTGGAATGACCAGGG
XM_006710756.1:c.1284+2_1284+20delinsTAGGCTGGAATGACCAGGG (POMGNT1) XP_006710819.1:n.1284+2_1284+20delinsTAGGCTGGAATGACCAGGG
XM_011540460.1:c.679-3704_679-3686delinsCCCTGGTCATTCCAGCCTA (TSPAN1) XP_011538762.1:n.679-3704_679-3686delinsCCCTGGTCATTCCAGCCTA
XM_011540461.1:c.634-3704_634-3686delinsCCCTGGTCATTCCAGCCTA (TSPAN1) XP_011538763.1:n.634-3704_634-3686delinsCCCTGGTCATTCCAGCCTA
XM_011541759.1:c.1218+2_1218+20delinsTAGGCTGGAATGACCAGGG (POMGNT1) XP_011540061.1:n.1218+2_1218+20delinsTAGGCTGGAATGACCAGGG
XM_011541760.1:c.1218+2_1218+20delinsTAGGCTGGAATGACCAGGG (POMGNT1) XP_011540062.1:n.1218+2_1218+20delinsTAGGCTGGAATGACCAGGG
XM_011541761.1:c.192+2_192+20delinsTAGGCTGGAATGACCAGGG (POMGNT1) XP_011540063.1:n.192+2_192+20delinsTAGGCTGGAATGACCAGGG
XR_946706.1:n.1444+2_1444+20delinsTAGGCTGGAATGACCAGGG (POMGNT1)
XM_011540460.3:c.679-3704_679-3686delinsCCCTGGTCATTCCAGCCTA (TSPAN1) XP_011538762.1:n.679-3704_679-3686delinsCCCTGGTCATTCCAGCCTA
XM_011541760.3:c.1218+2_1218+20delinsTAGGCTGGAATGACCAGGG (POMGNT1) XP_011540062.1:n.1218+2_1218+20delinsTAGGCTGGAATGACCAGGG
XM_017001690.1:c.1284+2_1284+20delinsTAGGCTGGAATGACCAGGG (POMGNT1) XP_016857179.1:n.1284+2_1284+20delinsTAGGCTGGAATGACCAGGG
NM_001243766.2:c.1284+2_1284+20delinsTAGGCTGGAATGACCAGGG (POMGNT1) NP_001230695.2:n.1284+2_1284+20delinsTAGGCTGGAATGACCAGGG
NM_001290129.2:c.1218+2_1218+20delinsTAGGCTGGAATGACCAGGG (POMGNT1) NP_001277058.2:n.1218+2_1218+20delinsTAGGCTGGAATGACCAGGG
NM_001290130.2:c.855+2_855+20delinsTAGGCTGGAATGACCAGGG (POMGNT1) NP_001277059.2:n.855+2_855+20delinsTAGGCTGGAATGACCAGGG
NM_017739.4:c.1284+2_1284+20delinsTAGGCTGGAATGACCAGGG (POMGNT1) MANE Select NP_060209.4:n.1284+2_1284+20delinsTAGGCTGGAATGACCAGGG